BTNL3[gene] and "single gene"[properties] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 781740	NM_197975.3(BTNL3):c.33C>G (p.Phe11Leu)	BTNL3 (F11L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2262903	NM_197975.3(BTNL3):c.71C>A (p.Pro24Gln)	BTNL3 (P24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238201	NM_197975.3(BTNL3):c.109G>A (p.Val37Met)	BTNL3 (V37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135559	NM_197975.3(BTNL3):c.122C>T (p.Ser41Phe)	BTNL3 (S41F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276713	NM_197975.3(BTNL3):c.160C>T (p.Arg54Trp)	BTNL3 (R54W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519413	NM_197975.3(BTNL3):c.161G>A (p.Arg54Gln)	BTNL3 (R54Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262076	NM_197975.3(BTNL3):c.217T>C (p.Trp73Arg)	BTNL3 (W73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325269	NM_197975.3(BTNL3):c.334T>C (p.Tyr112His)	BTNL3 (Y112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135561	NM_197975.3(BTNL3):c.371A>C (p.Glu124Ala)	BTNL3 (E124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738102	NM_197975.3(BTNL3):c.388C>T (p.Arg130Trp)	BTNL3 (R130W)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2352784	NM_197975.3(BTNL3):c.389G>A (p.Arg130Gln)	BTNL3 (R130Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 781741	NM_197975.3(BTNL3):c.426C>T (p.Ile142=)	BTNL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 792026	NM_197975.3(BTNL3):c.608G>C (p.Ser203Thr)	BTNL3 (S203T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3135562	NM_197975.3(BTNL3):c.616T>C (p.Cys206Arg)	BTNL3 (C206R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135563	NM_197975.3(BTNL3):c.712A>G (p.Ile238Val)	BTNL3 (I238V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537131	NM_197975.3(BTNL3):c.756G>A (p.Met252Ile)	BTNL3 (M252I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714286	NM_197975.3(BTNL3):c.844_845del (p.Asp282fs)	BTNL3 (D282fs)	Microsatellite (frameshift variant)	not provided	GLikely benign
Select item 2281016	NM_197975.3(BTNL3):c.851G>A (p.Arg284Gln)	BTNL3 (R284Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135564	NM_197975.3(BTNL3):c.887C>T (p.Thr296Met)	BTNL3 (T296M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218292	NM_197975.3(BTNL3):c.907G>A (p.Val303Ile)	BTNL3 (V303I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458260	NM_197975.3(BTNL3):c.908T>A (p.Val303Asp)	BTNL3 (V303D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590410	NM_197975.3(BTNL3):c.931C>G (p.His311Asp)	BTNL3 (H311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590411	NM_197975.3(BTNL3):c.933T>G (p.His311Gln)	BTNL3 (H311Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262079	NM_197975.3(BTNL3):c.977C>T (p.Thr326Ile)	BTNL3 (T326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468147	NM_197975.3(BTNL3):c.980G>A (p.Arg327Lys)	BTNL3 (R327K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226755	NM_197975.3(BTNL3):c.1038C>A (p.Asp346Glu)	BTNL3 (D346E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135556	NM_197975.3(BTNL3):c.1039G>A (p.Val347Met)	BTNL3 (V347M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520872	NM_197975.3(BTNL3):c.1075C>T (p.Arg359Trp)	BTNL3 (R359W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379512	NM_197975.3(BTNL3):c.1076G>A (p.Arg359Gln)	BTNL3 (R359Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3262078	NM_197975.3(BTNL3):c.1198C>A (p.Pro400Thr)	BTNL3 (P400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135558	NM_197975.3(BTNL3):c.1198C>T (p.Pro400Ser)	BTNL3 (P400S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135557	NM_197975.3(BTNL3):c.1198C>G (p.Pro400Ala)	BTNL3 (P400A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345920	NM_197975.3(BTNL3):c.1223G>A (p.Gly408Glu)	BTNL3 (G408E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338526	NM_197975.3(BTNL3):c.1242G>C (p.Glu414Asp)	BTNL3 (E414D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262077	NM_197975.3(BTNL3):c.1308G>C (p.Gln436His)	BTNL3 (Q436H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588013	NM_197975.3(BTNL3):c.1343C>T (p.Ala448Val)	BTNL3 (A448V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2595548	NM_197975.3(BTNL3):c.1349A>G (p.Tyr450Cys)	BTNL3 (Y450C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 37